Canonical Allele Identifier: CA440807742
Gene: MANBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102634974T>G , CM000666.2:g.102634974T>G GRCh38
NC_000004.11:g.103556131T>G , CM000666.1:g.103556131T>G GRCh37
NC_000004.10:g.103775179T>G NCBI36
NG_012804.1:g.131021A>C
NG_012804.2:g.131021A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005908.4:c.2229A>C MANE Select NP_005899.3:p.Gly743=
ENST00000647097.2:c.2229A>C MANE Select ENSP00000495247.1:p.Gly743=
NM_005908.3:c.2229A>C NP_005899.3:p.Gly743=
ENST00000226578.8:c.2229A>C ENSP00000226578.4:p.Gly743=
ENST00000505239.1:c.2058A>C ENSP00000427322.1:p.Gly686=
ENST00000514430.5:n.6464A>C
ENST00000642252.1:c.2367A>C ENSP00000495483.1:p.Gly789=
ENST00000644159.1:c.2229A>C ENSP00000494462.1:p.Gly743=
ENST00000644545.1:c.*869A>C ENSP00000493992.1:n.*869A>C
ENST00000645348.1:c.*1251A>C ENSP00000495363.1:n.*1251A>C
ENST00000645558.1:c.1897A>C
ENST00000646311.1:c.*1349A>C ENSP00000493465.1:n.*1349A>C
ENST00000646727.1:c.*1083A>C ENSP00000493519.1:n.*1083A>C
ENST00000647129.1:c.2318A>C ENSP00000496137.1:n.2318A>C
XM_011531965.1:c.1323A>C XP_011530267.1:p.Gly441=
XM_011531966.1:c.984A>C XP_011530268.1:p.Gly328=
XM_017008203.1:c.1866A>C XP_016863692.1:p.Gly622=
XM_017008204.2:c.1581A>C XP_016863693.1:p.Gly527=
XM_017008205.2:c.1023A>C XP_016863694.1:p.Gly341=
XM_024454048.1:c.2154A>C XP_024309816.1:p.Gly718=
XM_024454049.1:c.1866A>C XP_024309817.1:p.Gly622=